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Fusion gene ID: 12796 |
FusionGeneSummary for FAM35A_PTEN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM35A_PTEN | Fusion gene ID: 12796 | Hgene | Tgene | Gene symbol | FAM35A | PTEN | Gene ID | 5728 |
| Gene name | phosphatase and tensin homolog | ||
| Synonyms | 10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1 | ||
| Cytomap | 10q23.31 | ||
| Type of gene | protein-coding | ||
| Description | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10mitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutated in multip | ||
| Modification date | 20180527 | ||
| UniProtAcc | P60484 | ||
| Ensembl transtripts involved in fusion gene | ENST00000298784, ENST00000298786, | ENST00000371953, ENST00000472832, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 7 X 6 X 4=168 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FAM35A [Title/Abstract] AND PTEN [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | PTEN | GO:0001933 | negative regulation of protein phosphorylation | 20123964 |
| Tgene | PTEN | GO:0006470 | protein dephosphorylation | 9256433 |
| Tgene | PTEN | GO:0008285 | negative regulation of cell proliferation | 19057511 |
| Tgene | PTEN | GO:0031658 | negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 21241890 |
| Tgene | PTEN | GO:0046855 | inositol phosphate dephosphorylation | 9593664 |
| Tgene | PTEN | GO:0046856 | phosphatidylinositol dephosphorylation | 9593664|9811831 |
| Tgene | PTEN | GO:0050821 | protein stabilization | 20123964 |
| Tgene | PTEN | GO:0060070 | canonical Wnt signaling pathway | 20123964 |
| Tgene | PTEN | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 21241890 |
| Tgene | PTEN | GO:2000060 | positive regulation of ubiquitin-dependent protein catabolic process | 21241890 |
| Tgene | PTEN | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 21241890 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | PRAD | TCGA-ZG-A9L9-01A | FAM35A | chr10 | 88855005 | + | PTEN | chr10 | 89685270 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5UTR-3CDS | ENST00000298784 | ENST00000371953 | FAM35A | chr10 | 88855005 | + | PTEN | chr10 | 89685270 | + |
| 5UTR-intron | ENST00000298784 | ENST00000472832 | FAM35A | chr10 | 88855005 | + | PTEN | chr10 | 89685270 | + |
| 5UTR-3CDS | ENST00000298786 | ENST00000371953 | FAM35A | chr10 | 88855005 | + | PTEN | chr10 | 89685270 | + |
| 5UTR-intron | ENST00000298786 | ENST00000472832 | FAM35A | chr10 | 88855005 | + | PTEN | chr10 | 89685270 | + |
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FusionProtFeatures for FAM35A_PTEN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM35A | PTEN |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Tumor suppressor. Acts as a dual-specificity proteinphosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase,removing the phosphate in the D3 position of the inositol ringfrom phosphatidylinositol 3,4,5-trisphosphate,phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order ofsubstrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 >PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphataseactivity is critical for its tumor suppressor function.Antagonizes the PI3K-AKT/PKB signaling pathway bydephosphorylating phosphoinositides and thereby modulating cellcycle progression and cell survival. The unphosphorylated formcooperates with AIP1 to suppress AKT1 activation. Dephosphorylatestyrosine-phosphorylated focal adhesion kinase and inhibits cellmigration and integrin-mediated cell spreading and focal adhesionformation. Plays a role as a key modulator of the AKT-mTORsignaling pathway controlling the tempo of the process of newbornneurons integration during adult neurogenesis, including correctneuron positioning, dendritic development and synapse formation.May be a negative regulator of insulin signaling and glucosemetabolism in adipose tissue. The nuclear monoubiquitinated formpossesses greater apoptotic potential, whereas the cytoplasmicnonubiquitinated form induces less tumor suppressive ability. Inmotile cells, suppresses the formation of lateral pseudopods andthereby promotes cell polarization and directed movement.{ECO:0000269|PubMed:26504226}. Isoform alpha: Functional kinase, like isoform 1 itantagonizes the PI3K-AKT/PKB signaling pathway. Plays a role inmitochondrial energetic metabolism by promoting COX activity andATP production, via collaboration with isoform 1 in increasingprotein levels of PINK1. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for FAM35A_PTEN |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for FAM35A_PTEN |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| FAM35A | HNRNPA1, DEFA5, TRIM25 | PTEN | AR, ESR1, UBE2L3, UBE2I, TP53, CSNK2A1, CSNK2A2, UTP14A, ANG, CHGB, COPS6, HBA1, PTK2, MVP, MAGI3, CAV1, PXN, NEDD4, NDFIP1, NDFIP2, XIAP, CASP8, CCNE2, IRS4, PPP2R4, WNT4, QRFPR, ARHGAP26, G3BP2, CENPC, DBF4B, GPR113, INHBE, GFRA2, SMTN, KRT14, AMHR2, PTK2B, CRKL, MAP2K6, PKN2, PDGFRA, PINK1, P3H4, PTPN14, TCEB3C, BAP1, WWP2, MED12, ZNF787, FBN2, TTBK2, RPL14, EEF1A2, FRK, AKT1, PPP3CA, EGR1, SLC9A3R1, STUB1, ELAVL1, PPP1CA, SHARPIN, BMI1, KAT2B, PARK7, CDC27, ANAPC4, ANAPC5, ANAPC7, FZR1, NCOA3, FBXW7, LATS1, CBL, EPHB1, USP7, USP8, USP10, USP13, USP39, USP4, UBC, CDH1, CTNNB1, WWP1, TNKS, TNKS2, RNF146, TXNDC11, CFB, YME1L1, SUV39H1, HES5, GPER1, MXD1, TTC31, EME2, OPRL1, OSBP2, RFTN1, PBX3, FBXL6, PIGN, POLM, TUBA1A, UBAP2L, TRIM8, CDC42EP5, ST8SIA6, ENO2, BLOC1S1, HES6, IFIH1, CYB5R3, PSMB2, SLC36A1, THBD, CARS2, NOTCH1, PPAP2B, UBE2D1, HEATR6, LLGL2, SLC25A6, KIAA0196, PKMYT1, HAGHL, RASSF2, SOCS1, TRIM24, ACACA, PC, PCCA, PCCB, MCCC2, MCCC1, HSPA8, DBT, HSP90AA1, HSPA1A, TUBA3C, HSPA1L, TUBB2A, AMOT, ETS1, HSPA6, STIP1, TUBB4B, ACACB, HSP90AB1, HSPA2, BCKDHA, TUBA1C, HNRNPU, PPP1R10, TUBB3, BEX1, CXCL1, IL24, OSGIN1, POLDIP2, PELO, RPS2, RPL10A, RPLP0, SSR4, ANXA2, FASN, AKAP12, DBN1, PRDX1, DSP, NME1, HSD17B1, UTRN, SPTAN1, RPS9, RPL38, GNAI1, GNAI2, MPRIP, RPS15A, GSTM2, SKP1, EEF2, GNB4, RPL27, SSFA2, DNAJA1, SPTBN1, LIMA1, RPL22L1, RPLP2, RPL27A, FLNB, MYO1D, TUBB, PLEC, MTHFD2, LDHB, RPS17, SDC1, RPS25, CFL1, RCC2, MYOF, RPS6, GPC1, RPL7, TUBA1B, ATP5C1, JUP, ARF4, PPL, RPL13A, RPL23, NCF1, RPS20, GPC4, RPS27, TUFM, HIST1H2AB, S100A8, MYH10, HSPD1, ATP5A1, KBTBD4, PKM, RPS4X, SLC25A5, DCAF11, S100A9, RPL12, LGALS1, MYO1B, RPS3, SDC4, RPS13, MYL12A, CALM1, SLC25A3, RPL31, SNTB2, MYO1C, SETX, RPL13, RPS26, RPS27A, C16orf13, YES1, DDB1, SDCBP, TXN, PDGFRB, OTUD3, PBK, NGB, BCAR1, SPOP, PLK1, CHEK1, BRD4, VHL, MTOR, NF1, ADA, MET, KDM6A, CDK4, CDKN2A, BRAF, PTEN, PIK3R2, PLEKHA1, PTPN13, DLG1, INS, AATK, ERBB3, PTK7, DLC1, RHOA, EIF2AK2, EGFR, ITPR3, MCRS1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FAM35A_PTEN |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FAM35A_PTEN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PTEN | C0018553 | Hamartoma Syndrome, Multiple | 29 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PTEN | C0033578 | Prostatic Neoplasms | 11 | CTD_human |
| Tgene | PTEN | C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | 6 | ORPHANET;UNIPROT |
| Tgene | PTEN | C0376634 | Craniofacial Abnormalities | 6 | CTD_human |
| Tgene | PTEN | C3714756 | Intellectual Disability | 5 | CTD_human;HPO |
| Tgene | PTEN | C0004352 | Autistic Disorder | 4 | CTD_human;HPO |
| Tgene | PTEN | C0014170 | Endometrial Neoplasms | 4 | CTD_human |
| Tgene | PTEN | C1458155 | Mammary Neoplasms | 4 | CTD_human;HPO |
| Tgene | PTEN | C0008073 | Developmental Disabilities | 3 | CTD_human |
| Tgene | PTEN | C0025202 | melanoma | 3 | CTD_human;HPO |
| Tgene | PTEN | C0085261 | Proteus Syndrome | 3 | CTD_human;ORPHANET |
| Tgene | PTEN | C0376358 | Malignant neoplasm of prostate | 3 | UNIPROT |
| Tgene | PTEN | C0282612 | Prostatic Intraepithelial Neoplasias | 2 | CTD_human |
| Tgene | PTEN | C1168401 | Squamous cell carcinoma of the head and neck | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PTEN | C1854416 | MACROCEPHALY/AUTISM SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PTEN | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | PTEN | C0003081 | Anisometropia | 1 | CTD_human |
| Tgene | PTEN | C0004096 | Asthma | 1 | CTD_human |
| Tgene | PTEN | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | PTEN | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | PTEN | C0014173 | Endometrial Hyperplasia | 1 | CTD_human |
| Tgene | PTEN | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | PTEN | C0017638 | Glioma | 1 | CTD_human |
| Tgene | PTEN | C0018916 | Hemangioma | 1 | CTD_human;HPO |
| Tgene | PTEN | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | PTEN | C0020564 | Hypertrophy | 1 | CTD_human |
| Tgene | PTEN | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | PTEN | C0023014 | Language Development Disorders | 1 | CTD_human |
| Tgene | PTEN | C0023418 | leukemia | 1 | CTD_human |
| Tgene | PTEN | C0023798 | Lipoma | 1 | CTD_human;HPO |
| Tgene | PTEN | C0023801 | Lipomatosis | 1 | CTD_human |
| Tgene | PTEN | C0023976 | Long QT Syndrome | 1 | CTD_human |
| Tgene | PTEN | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | PTEN | C0024299 | Lymphoma | 1 | CTD_human |
| Tgene | PTEN | C0025286 | Meningioma | 1 | CTD_human;HPO |
| Tgene | PTEN | C0026613 | Motor Skills Disorders | 1 | CTD_human |
| Tgene | PTEN | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Tgene | PTEN | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | PTEN | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | PTEN | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | PTEN | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Tgene | PTEN | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Tgene | PTEN | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | PTEN | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Tgene | PTEN | C0152427 | Polydactyly | 1 | CTD_human |
| Tgene | PTEN | C0175704 | LEOPARD Syndrome | 1 | CTD_human |
| Tgene | PTEN | C0206669 | Hepatocellular Adenoma | 1 | CTD_human |
| Tgene | PTEN | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| Tgene | PTEN | C0476089 | Endometrial Carcinoma | 1 | HPO;UNIPROT |
| Tgene | PTEN | C0919267 | ovarian neoplasm | 1 | CTD_human;HPO |
| Tgene | PTEN | C1848599 | VACTERL Association With Hydrocephalus | 1 | CTD_human |
| Tgene | PTEN | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | PTEN | C2751642 | GLIOMA SUSCEPTIBILITY 2 | 1 | UNIPROT |
| Tgene | PTEN | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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